Kamron N Khan
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Explore the profile of Kamron N Khan including associated specialties, affiliations and a list of published articles.
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31
Citations
484
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Recent Articles
1.
Bonelli R, Woods S, Lockwood S, Bishop P, Khan K, Bahlo M, et al.
Metabolomics
. 2023 Feb;
19(2):10.
PMID: 36745234
Introduction: The primate retina has evolved regional specialisations for specific visual functions. The macula is specialised towards high acuity vision and is an area that contains an increased density of...
2.
Nguyen X, Thiadens A, Fiocco M, Tan W, McKibbin M, Klaver C, et al.
Am J Ophthalmol
. 2022 Oct;
246:1-9.
PMID: 36252678
Purpose: To assess the visual outcome of cataract surgery in patients with retinitis pigmentosa (RP). Design: Retrospective, noncomparative clinical study. Methods: Preoperative, intraoperative, and postoperative data of patients with RP...
3.
Pizzamiglio C, Mahroo O, Khan K, Patasin M, Quinlivan R
J Inherit Metab Dis
. 2021 Sep;
44(6):1409-1418.
PMID: 34534370
McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities,...
4.
Sheck L, Esposti S, Mahroo O, Arno G, Pontikos N, Wright G, et al.
Mol Genet Genomic Med
. 2021 Mar;
9(12):e1663.
PMID: 33749171
Background: This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). Methods: Subjects are patients...
5.
Poulter J, Gravett M, Taylor R, Fujinami K, De Zaeytijd J, Bellingham J, et al.
Hum Mutat
. 2020 Nov;
42(2):164-176.
PMID: 33252155
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease...
6.
Casalino G, Khan K, Armengol M, Wright G, Pontikos N, Georgiou M, et al.
Ophthalmology
. 2020 Oct;
128(5):706-718.
PMID: 33039401
Purpose: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. Design: Retrospective case series. Participants: Patients...
7.
Khan K, Borooah S, Lando L, Dans K, Mahroo O, Meshi A, et al.
Transl Vis Sci Technol
. 2020 Aug;
9(6):26.
PMID: 32821523
Purpose: To describe and quantify Bruch's membrane (BM) and retinal pigment epithelium (RPE) separation using spectral-domain (SD) optical coherence tomography (OCT) in patients affected by inherited macular degenerations associated with...
8.
Vig A, Poulter J, Ottaviani D, Tavares E, Toropova K, Tracewska A, et al.
Genet Med
. 2020 Aug;
22(12):2041-2051.
PMID: 32753734
Purpose: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). Methods: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant....
9.
Bonelli R, Woods S, Ansell B, Heeren T, A Egan C, Khan K, et al.
Sci Rep
. 2020 Jul;
10(1):12165.
PMID: 32699277
Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown,...
10.
Rahman N, Georgiou M, Khan K, Michaelides M
Br J Ophthalmol
. 2019 Nov;
104(4):451-460.
PMID: 31704701
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. Advances in genetic testing over the last decade have led to...